WFRF:(L. Mai Phuong)
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 11489naa a2202761 4500 | |
| 001 | oai:lup.lub.lu.se:cdf6fb07-70be-42fb-89ad-4506e832110d | |
| 003 | SwePub | |
| 008 | 160401s2014 | |||||||||||000 ||eng| | |
| 009 | oai:prod.swepub.kib.ki.se:129070332 | |
| 024 | 7 | a https://lup.lub.lu.se/record/44309342 URI |
| 024 | 7 | a https://doi.org/10.1371/journal.pgen.10042562 DOI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1290703322 URI |
| 040 | a (SwePub)lud (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a art2 swepub-publicationtype |
| 072 | 7 | a ref2 swepub-contenttype |
| 100 | 1 | a Osorio, Ana4 aut |
| 245 | 1 0 | a DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. |
| 264 | c 2014-04-03 | |
| 264 | 1 | b Public Library of Science (PLoS),c 2014 |
| 338 | a electronic2 rdacarrier | |
| 520 | a Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between one of the components of the BER pathway, PARP1 (poly ADP ribose polymerase), and both BRCA1 and BRCA2. In the present study, we have performed a comprehensive analysis of 18 genes involved in BER using a tagging SNP approach in a large series of BRCA1 and BRCA2 mutation carriers. 144 SNPs were analyzed in a two stage study involving 23,463 carriers from the CIMBA consortium (the Consortium of Investigators of Modifiers of BRCA1 and BRCA2). Eleven SNPs showed evidence of association with breast and/or ovarian cancer at p<0.05 in the combined analysis. Four of the five genes for which strongest evidence of association was observed were DNA glycosylases. The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.16), p = 2.7×10-3) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95%CI: 1.03-1.21, p = 4.8×10-3). DNA glycosylases involved in the first steps of the BER pathway may be associated with cancer risk in BRCA1/2 mutation carriers and should be more comprehensively studied. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
| 700 | 1 | a Milne, Roger L4 aut |
| 700 | 1 | a Kuchenbaecker, Karoline4 aut |
| 700 | 1 | a Vaclová, Tereza4 aut |
| 700 | 1 | a Pita, Guillermo4 aut |
| 700 | 1 | a Alonso, Rosario4 aut |
| 700 | 1 | a Peterlongo, Paolo4 aut |
| 700 | 1 | a Blanco, Ignacio4 aut |
| 700 | 1 | a de la Hoya, Miguel4 aut |
| 700 | 1 | a Duran, Mercedes4 aut |
| 700 | 1 | a Díez, Orland4 aut |
| 700 | 1 | a Ramón Y Cajal, Teresa4 aut |
| 700 | 1 | a Konstantopoulou, Irene4 aut |
| 700 | 1 | a Martínez-Bouzas, Cristina4 aut |
| 700 | 1 | a Andrés Conejero, Raquel4 aut |
| 700 | 1 | a Soucy, Penny4 aut |
| 700 | 1 | a McGuffog, Lesley4 aut |
| 700 | 1 | a Barrowdale, Daniel4 aut |
| 700 | 1 | a Lee, Andrew4 aut |
| 700 | 1 | a Swe-Brca, Swe-Brca4 aut |
| 700 | 1 | a Arver, Britau Karolinska Institutet4 aut |
| 700 | 1 | a Rantala, Johannau Karolinska Institutet4 aut |
| 700 | 1 | a Loman, Niklasu Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)onk-nlo |
| 700 | 1 | a Ehrencrona, Hansu Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine4 aut0 (Swepub:lu)med-hen |
| 700 | 1 | a Olopade, Olufunmilayo I4 aut |
| 700 | 1 | a Beattie, Mary S4 aut |
| 700 | 1 | a Domchek, Susan M4 aut |
| 700 | 1 | a Nathanson, Katherine4 aut |
| 700 | 1 | a Rebbeck, Timothy R4 aut |
| 700 | 1 | a Arun, Banu K4 aut |
| 700 | 1 | a Karlan, Beth Y4 aut |
| 700 | 1 | a Walsh, Christine4 aut |
| 700 | 1 | a Lester, Jenny4 aut |
| 700 | 1 | a John, Esther M4 aut |
| 700 | 1 | a Whittemore, Alice S4 aut |
| 700 | 1 | a Daly, Mary B4 aut |
| 700 | 1 | a Southey, Melissa4 aut |
| 700 | 1 | a Hopper, John4 aut |
| 700 | 1 | a Terry, Mary B4 aut |
| 700 | 1 | a Buys, Saundra S4 aut |
| 700 | 1 | a Janavicius, Ramunas4 aut |
| 700 | 1 | a Dorfling, Cecilia M4 aut |
| 700 | 1 | a van Rensburg, Elizabeth J4 aut |
| 700 | 1 | a Steele, Linda4 aut |
| 700 | 1 | a Neuhausen, Susan L4 aut |
| 700 | 1 | a Ding, Yuan Chun4 aut |
| 700 | 1 | a Hansen, Thomas V O4 aut |
| 700 | 1 | a Jønson, Lars4 aut |
| 700 | 1 | a Ejlertsen, Bent4 aut |
| 700 | 1 | a Gerdes, Anne-Marie4 aut |
| 700 | 1 | a Infante, Mar4 aut |
| 700 | 1 | a Herráez, Belén4 aut |
| 700 | 1 | a Moreno, Leticia Thais4 aut |
| 700 | 1 | a Weitzel, Jeffrey N4 aut |
| 700 | 1 | a Herzog, Josef4 aut |
| 700 | 1 | a Weeman, Kisa4 aut |
| 700 | 1 | a Manoukian, Siranoush4 aut |
| 700 | 1 | a Peissel, Bernard4 aut |
| 700 | 1 | a Zaffaroni, Daniela4 aut |
| 700 | 1 | a Scuvera, Giulietta4 aut |
| 700 | 1 | a Bonanni, Bernardo4 aut |
| 700 | 1 | a Mariette, Frederique4 aut |
| 700 | 1 | a Volorio, Sara4 aut |
| 700 | 1 | a Viel, Alessandra4 aut |
| 700 | 1 | a Varesco, Liliana4 aut |
| 700 | 1 | a Papi, Laura4 aut |
| 700 | 1 | a Ottini, Laura4 aut |
| 700 | 1 | a Tibiletti, Maria Grazia4 aut |
| 700 | 1 | a Radice, Paolo4 aut |
| 700 | 1 | a Yannoukakos, Drakoulis4 aut |
| 700 | 1 | a Garber, Judy4 aut |
| 700 | 1 | a Ellis, Steve4 aut |
| 700 | 1 | a Frost, Debra4 aut |
| 700 | 1 | a Platte, Radka4 aut |
| 700 | 1 | a Fineberg, Elena4 aut |
| 700 | 1 | a Evans, Gareth4 aut |
| 700 | 1 | a Lalloo, Fiona4 aut |
| 700 | 1 | a Izatt, Louise4 aut |
| 700 | 1 | a Eeles, Ros4 aut |
| 700 | 1 | a Adlard, Julian4 aut |
| 700 | 1 | a Davidson, Rosemarie4 aut |
| 700 | 1 | a Cole, Trevor4 aut |
| 700 | 1 | a Eccles, Diana4 aut |
| 700 | 1 | a Cook, Jackie4 aut |
| 700 | 1 | a Hodgson, Shirley4 aut |
| 700 | 1 | a Brewer, Carole4 aut |
| 700 | 1 | a Tischkowitz, Marc4 aut |
| 700 | 1 | a Douglas, Fiona4 aut |
| 700 | 1 | a Porteous, Mary4 aut |
| 700 | 1 | a Side, Lucy4 aut |
| 700 | 1 | a Walker, Lisa4 aut |
| 700 | 1 | a Morrison, Patrick4 aut |
| 700 | 1 | a Donaldson, Alan4 aut |
| 700 | 1 | a Kennedy, John4 aut |
| 700 | 1 | a Foo, Claire4 aut |
| 700 | 1 | a Godwin, Andrew K4 aut |
| 700 | 1 | a Schmutzler, Rita Katharina4 aut |
| 700 | 1 | a Wappenschmidt, Barbara4 aut |
| 700 | 1 | a Rhiem, Kerstin4 aut |
| 700 | 1 | a Engel, Christoph4 aut |
| 700 | 1 | a Meindl, Alfons4 aut |
| 700 | 1 | a Ditsch, Nina4 aut |
| 700 | 1 | a Arnold, Norbert4 aut |
| 700 | 1 | a Plendl, Hans Jörg4 aut |
| 700 | 1 | a Niederacher, Dieter4 aut |
| 700 | 1 | a Sutter, Christian4 aut |
| 700 | 1 | a Wang-Gohrke, Shan4 aut |
| 700 | 1 | a Steinemann, Doris4 aut |
| 700 | 1 | a Preisler-Adams, Sabine4 aut |
| 700 | 1 | a Kast, Karin4 aut |
| 700 | 1 | a Varon-Mateeva, Raymonda4 aut |
| 700 | 1 | a Gehrig, Andrea4 aut |
| 700 | 1 | a Stoppa-Lyonnet, Dominique4 aut |
| 700 | 1 | a Sinilnikova, Olga M4 aut |
| 700 | 1 | a Mazoyer, Sylvie4 aut |
| 700 | 1 | a Damiola, Francesca4 aut |
| 700 | 1 | a Poppe, Bruce4 aut |
| 700 | 1 | a Claes, Kathleen4 aut |
| 700 | 1 | a Piedmonte, Marion4 aut |
| 700 | 1 | a Tucker, Kathy4 aut |
| 700 | 1 | a Backes, Floor4 aut |
| 700 | 1 | a Rodríguez, Gustavo4 aut |
| 700 | 1 | a Brewster, Wendy4 aut |
| 700 | 1 | a Wakeley, Katie4 aut |
| 700 | 1 | a Rutherford, Thomas4 aut |
| 700 | 1 | a Caldés, Trinidad4 aut |
| 700 | 1 | a Nevanlinna, Heli4 aut |
| 700 | 1 | a Aittomäki, Kristiina4 aut |
| 700 | 1 | a Rookus, Matti A4 aut |
| 700 | 1 | a van Os, Theo A M4 aut |
| 700 | 1 | a van der Kolk, Lizet4 aut |
| 700 | 1 | a de Lange, J L4 aut |
| 700 | 1 | a Meijers-Heijboer, Hanne E J4 aut |
| 700 | 1 | a van der Hout, A H4 aut |
| 700 | 1 | a van Asperen, Christi J4 aut |
| 700 | 1 | a Gómez Garcia, Encarna B4 aut |
| 700 | 1 | a Hoogerbrugge, Nicoline4 aut |
| 700 | 1 | a Collée, J Margriet4 aut |
| 700 | 1 | a van Deurzen, Carolien H M4 aut |
| 700 | 1 | a van der Luijt, Rob B4 aut |
| 700 | 1 | a Devilee, Peter4 aut |
| 700 | 1 | a Hebon, Hebon4 aut |
| 700 | 1 | a Olah, Edith4 aut |
| 700 | 1 | a Lázaro, Conxi4 aut |
| 700 | 1 | a Teulé, Alex4 aut |
| 700 | 1 | a Menéndez, Mireia4 aut |
| 700 | 1 | a Jakubowska, Anna4 aut |
| 700 | 1 | a Cybulski, Cezary4 aut |
| 700 | 1 | a Gronwald, Jacek4 aut |
| 700 | 1 | a Lubinski, Jan4 aut |
| 700 | 1 | a Durda, Katarzyna4 aut |
| 700 | 1 | a Jaworska-Bieniek, Katarzyna4 aut |
| 700 | 1 | a Johannsson, Oskar Th4 aut |
| 700 | 1 | a Maugard, Christine4 aut |
| 700 | 1 | a Montagna, Marco4 aut |
| 700 | 1 | a Tognazzo, Silvia4 aut |
| 700 | 1 | a Teixeira, Manuel R4 aut |
| 700 | 1 | a Healey, Sue4 aut |
| 700 | 1 | a Investigators, Kconfab4 aut |
| 700 | 1 | a Olswold, Curtis4 aut |
| 700 | 1 | a Guidugli, Lucia4 aut |
| 700 | 1 | a Lindor, Noralane4 aut |
| 700 | 1 | a Slager, Susan4 aut |
| 700 | 1 | a Szabo, Csilla I4 aut |
| 700 | 1 | a Vijai, Joseph4 aut |
| 700 | 1 | a Robson, Mark4 aut |
| 700 | 1 | a Kauff, Noah4 aut |
| 700 | 1 | a Zhang, Liying4 aut |
| 700 | 1 | a Rau-Murthy, Rohini4 aut |
| 700 | 1 | a Fink-Retter, Anneliese4 aut |
| 700 | 1 | a Singer, Christian F4 aut |
| 700 | 1 | a Rappaport, Christine4 aut |
| 700 | 1 | a Geschwantler Kaulich, Daphne4 aut |
| 700 | 1 | a Pfeiler, Georg4 aut |
| 700 | 1 | a Tea, Muy-Kheng4 aut |
| 700 | 1 | a Berger, Andreas4 aut |
| 700 | 1 | a Phelan, Catherine M4 aut |
| 700 | 1 | a Greene, Mark H4 aut |
| 700 | 1 | a Mai, Phuong L4 aut |
| 700 | 1 | a Lejbkowicz, Flavio4 aut |
| 700 | 1 | a Andrulis, Irene4 aut |
| 700 | 1 | a Mulligan, Anna Marie4 aut |
| 700 | 1 | a Glendon, Gord4 aut |
| 700 | 1 | a Toland, Amanda Ewart4 aut |
| 700 | 1 | a Bojesen, Anders4 aut |
| 700 | 1 | a Pedersen, Inge Sokilde4 aut |
| 700 | 1 | a Sunde, Lone4 aut |
| 700 | 1 | a Thomassen, Mads4 aut |
| 700 | 1 | a Kruse, Torben A4 aut |
| 700 | 1 | a Jensen, Uffe Birk4 aut |
| 700 | 1 | a Friedman, Eitan4 aut |
| 700 | 1 | a Laitman, Yael4 aut |
| 700 | 1 | a Shimon, Shani Paluch4 aut |
| 700 | 1 | a Simard, Jacques4 aut |
| 700 | 1 | a Easton, Douglas F4 aut |
| 700 | 1 | a Offit, Kenneth4 aut |
| 700 | 1 | a Couch, Fergus J4 aut |
| 700 | 1 | a Chenevix-Trench, Georgia4 aut |
| 700 | 1 | a Antoniou, Antonis C4 aut |
| 700 | 1 | a Benitez, Javier4 aut |
| 710 | 2 | a Karolinska Institutetb Bröstcancer-genetik4 org |
| 773 | 0 | t PLoS Geneticsd : Public Library of Science (PLoS)g 10:4q 10:4x 1553-7404 |
| 856 | 4 | u https://portal.research.lu.se/files/1930833/4731762x primaryx freey FULLTEXT |
| 856 | 4 | u http://www.ncbi.nlm.nih.gov/pubmed/24698998?dopt=Abstractx freey FULLTEXT |
| 856 | 4 | u http://dx.doi.org/10.1371/journal.pgen.1004256x freey FULLTEXT |
| 856 | 4 | u https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1004256&type=printable |
| 856 | 4 8 | u https://lup.lub.lu.se/record/4430934 |
| 856 | 4 8 | u https://doi.org/10.1371/journal.pgen.1004256 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:129070332 |
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- Osorio, Ana
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- Ellis, Steve
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- Izatt, Louise
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- Brewer, Carole
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- Stoppa-Lyonnet, ...
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- Mazoyer, Sylvie
- Damiola, Frances ...
- Poppe, Bruce
- Claes, Kathleen
- Piedmonte, Mario ...
- Tucker, Kathy
- Backes, Floor
- Rodríguez, Gusta ...
- Brewster, Wendy
- Wakeley, Katie
- Rutherford, Thom ...
- Caldés, Trinidad
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- Lázaro, Conxi
- Teulé, Alex
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